What is spina bifida?

Spina bifida is a congenital neural tube defect that occurs due to the malformation of the spine and possibly includes a dysplastic spinal cord. In simple terms, it is the failure of development and proper closure of the spine and the spinal cord seen in an infant.⁵

It is essential to have proper knowledge about the symptoms and to be able to identify them, to achieve an early diagnosis. This is crucial as it helps us proceed with the necessary intervention swiftly. This article provides a comprehensive guide to identifying the earliest most typical symptoms to watch out for that might help you in recognising potential signs for early diagnosis.

Symptoms of spina bifida 

Spina bifida has various symptoms that differ depending on the type of defect and the severity of the condition.

• An abnormal area located at the back of the infant which might include any of the following
  • Hairy patch
  • Dimple
  • Birthmark
  • An outpouching resembling a sac or bulge 
• Neurological symptoms like
  • Loss of sensation - The infant might not have any sense below the level of the bulge caused due to involvement of the spinal cord and the nerves
  • Loss of movementParalysis is caused due to the involvement of the spinal cord and can be noted below the level of the bulge most likely involving the lower limbs. This paralysis can lead to weakness of the muscles that could cause complications such as 
    • No movement from the lower limbs
      • Our brain controls the movement in our body through nerves and a defect in this might lead to paralysis and further weakness
      • This might lead to further problems like dislocation or deforming joints, bone fractures, and abnormal curvature of the spine called scoliosis
    • Urinary and bowel dysfunction
      • Difficulty in passing stools or no bowel movement at all (constipation)
      • Difficulty in urination (urinary Incontinence)

Retention of urine leads to UTIs (urinary tract infections), Hydronephrosis which is a condition of swollen kidneys, kidney scarring, and kidney stones.

• Hydrocephalus
  • Hydrocephalus is a condition of increased fluid and pressure levels at the head of the infant. Due to the increased pressure, the infant may also have learning difficulties causing developmental delays³

Different types of Spina bifida

There are three main types of spina bifida; myelomeningocele, spina bifida occulta (hidden), and meningocele.

Myelomeningocele

The prefix Myelo means spinal cord, meningo means the membranes surrounding the brain and spinal cord, and -cele means bulging. Myelomeningocele is the bulging of both the spinal cord and the membranes surrounding the spinal cord. This is a more severe form of spina bifida as it is presented by the infant's spinal canal being open throughout many vertebral levels, the protective membranes around it that are pushed out into the infant's back into the sac that is noted. This leaves the affected baby susceptible to various infections which can be dangerous.

Spina bifida occulta 

The word Occulta means hidden. This is a more common and mild type of spina bifida since there is only a small separation gap between one or more spinal bones. The patients are most likely asymptomatic and the findings are incidental through an x-ray findings.

Meningocele

This is a rare type that involves only a sac filled with the spinal fluid that bulges out through an opening, no nerves are affected in this type, which is why there are more minor symptoms and the infants affected do not usually show any problems or difficulties with the functioning of the bladder as well as bowel movements.²

Diagnosis 

Prenatal screening

These are the tests done before birth, i.e. during pregnancy and it is recommended to all pregnant women as it is an efficient method to help detect neural tube defects.

Maternal serum alpha-fetoprotein test 

In the second trimester, a simple blood test can done to check the alpha fetal protein, which is elevated in the case of neural tube defects such as spina bifida. However, it is not a confirmatory test.

High-resolution ultrasound

This type of prenatal screening is most recommended, as it detects neural tube defects as well as any abnormal brain development. It is most commonly used during the second trimester and is also the most accurate method of diagnosing spina bifida. 

Amniocentesis

This is done in case of a confirmed diagnosis of spina bifida through ultrasound in order to check for any genetic conditions.⁴

Early detection allows us to better prepare for delivery and consider interventions, mainly prenatal surgical closure of the defect. 

Postnatal detection

CT scans or MRI scans 

Used to detect the growth of the head of the infant and to check for the presence of any signs of hydrocephalus.

Ultrasound

Used in the detection of hydronephrosis⁴

Treatment 

Surgery is the treatment done in the cases of spina bifida, including;

• Prenatal surgery: The surgery is performed by entering the mother's uterus and repairing the baby’s spinal cord. It is done before 26 weeks of pregnancy
• Postnatal surgery: This surgery is performed within 72 hours after birth, as it significantly reduces the chances of dangerous infections or even trauma from the eviscerated contents⁴
• Shunt: A shunt is placed in the infant's brain to control hydrocephalus
• Therapeutic strategies: Apart from surgery, various therapeutic strategies including physiotherapy and occupational therapy are done to improve the quality of life
• Wheelchairs and crutches: Aids for walking are used in cases when required⁴

Causes of spina bifida

The cause of spina bifida is unknown but neural tube defects are more likely associated with the following risk factors.

• Decreased folic acid intake during pregnancy
• Family history
• Diabetes
• Obesity

Prevention

For the prevention of neural tube defects, the intake of folic acid (vitamin B9) during pregnancy is crucial as it is closely linked with preventing the occurrence of neural tube defects. The recommended dose of folic acid is 400 μg (micrograms) every day before conceiving until 12 weeks of pregnancy.²

Complications

• Chiari type II malformation 
  • Hindbrain herniation, also called the chiari type II malformation, is seen in myelomeningocele where respiratory symptoms like stridor, vocal cord dysfunction, and central or obstructive apnea are noted
  • Surgical decompensation is required in such cases
• Tethered cord syndrome
  • Tethered cord syndrome, includes symptoms like change in gait, bowel, or bladder dysfunction, scoliosis increased back pain, and orthopedic changes
• Shunt malfunction can cause a neurological decline
• The most common orthopedic complications include scoliosis, lordosis, and kyphosis
• Latex allergies are also common in infants with spina bifida and early exposure can cause serious reactions
• Osteoporosis also begins to develop in childhood and is more severe in cases of a higher-level injury⁵

FAQs

How to prevent spina bifida?

The risk of spina bifida can be reduced by taking adequate folic acid supplements before conception and during early pregnancy. It is recommended that women of childbearing age take 400 μg (micrograms) of folic acid daily.

What is the prognosis of an infant with spina bifida?

The prognosis depends on the severity of the condition and the effectiveness of early intervention and ongoing medical care. Many children with spina bifida lead active and fulfilling lives with proper management and support.

Can children with spina bifida attend school and participate in regular activities?

Many children with spina bifida can attend school and participate in regular activities with appropriate accommodations and support. Early intervention and therapies can help improve mobility and independence.

Is spina bifida hereditary?

While the exact cause of spina bifida is unknown, there is evidence to suggest that genetics can play a role. A family history of neural tube defects can increase the risk.

What are the most common complications associated with spina bifida?

Common complications include hydrocephalus, Chiari II malformation (Hindbrain herniation), tethered spinal cord, urinary and bowel issues, and orthopedic problems like scoliosis.

Summary 

Spina bifida is a congenital defect of the neural tube where the spine and spinal cord do not develop properly, potentially leading to severe complications. Key symptoms in infants include abnormal patches or bulges on the back, paralysis, urinary and bowel dysfunction, and hydrocephalus. Early detection through prenatal screenings and postnatal imaging is crucial for effective and prompt intervention. Treatment primarily involves surgical repair, both prenatally and postnatally, along with supportive therapies to improve the quality of life. Prevention focuses on adequate folic acid intake during pregnancy.